Epicanthus, and Dyspnea

Diseases related with Epicanthus and Dyspnea

In the following list you will find some of the most common rare diseases related to Epicanthus and Dyspnea that can help you solving undiagnosed cases.


Top matches:

Medium match MYOTONIA PERMANENS


Myotonia permanens is a very rare, persistent and more severe form of potassium-aggravated myotonia (PAM, see this term).

Related symptoms:

  • Intellectual disability
  • Short stature
  • Muscle weakness
  • Epicanthus
  • Gait disturbance


SOURCES: ORPHANET MENDELIAN

More info about MYOTONIA PERMANENS

Medium match DIAMOND-BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS; DBA15


Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about DIAMOND-BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS; DBA15

Medium match MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY


Mitochondrial pyruvate carrier deficiency is an autosomal recessive metabolic disorder characterized by delayed psychomotor development and lactic acidosis with a normal lactate/pyruvate ratio resulting from impaired mitochondrial pyruvate oxidation (summary by Bricker et al., 2012).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Nystagmus


SOURCES: ORPHANET OMIM MENDELIAN

More info about MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY

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Other less relevant matches:

Medium match WEST SYNDROME


West syndrome (or infantile spasms) is characterised by the association of clusters of axial spasms, psychomotor retardation and an hypsarrhythmic interictal EEG pattern. It is the most frequent type of epileptic encephalopathy. It may occur in otherwise healthy infants and in those with abnormal cognitive development.

WEST SYNDROME Is also known as intellectual disability-hypsarrhythmia syndrome|infantile spasm syndrome, x-linked 1|xmesid|west syndrome, x-linked|ohtahara syndrome, x-linked|infantile spasms|infantile epileptic-dyskinetic encephalopathy|issx1

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Ataxia


SOURCES: OMIM ORPHANET MENDELIAN

More info about WEST SYNDROME

Medium match AMYOTROPHY, HEREDITARY NEURALGIC; HNA


Hereditary neuralgic amyotrophy (HNA) is an autosomal dominant form of recurrent focal neuropathy characterized clinically by acute, recurrent episodes of brachial plexus neuropathy with muscle weakness and atrophy preceded by severe pain in the affected arm.

AMYOTROPHY, HEREDITARY NEURALGIC; HNA Is also known as neuritis with brachial predilection|napb|amyotrophy, hereditary neuralgic, with predilection for brachial plexus|brachial plexus neuropathy, hereditary

Related symptoms:

  • Short stature
  • Muscle weakness
  • Abnormal facial shape
  • Cleft palate
  • Pain


SOURCES: OMIM MENDELIAN

More info about AMYOTROPHY, HEREDITARY NEURALGIC; HNA

Medium match CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY; CAFDADD


Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Hearing impairment
  • Abnormal facial shape
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY; CAFDADD

Medium match PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY


Pyruvate dehydrogenase E3-binding protein deficiency is a rare mild form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by variable lactic acidosis and neurological dysfunction.

PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY Is also known as diaphorase deficiency|2-oxoglutarate complex deficiency|pyruvate dehydrogenase protein x component deficiency|dihydrolipoyl dehydrogenase deficiency|branched chain alpha-ketoacid dehydrogenase complex deficiency|pyruvate dehydrogenase complex component e3

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY

Medium match SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY; SRTD15


Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013). There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).SRTD15 is characterized by narrow thorax, oral and cardiovascular anomalies, short long bones, and postaxial polydactyly, in addition to other congenital anomalies. Considerable variability in features and in severity has been reported, with some affected individuals succumbing shortly after birth and others living to adulthood, even within the same family.For a discussion of genetic heterogeneity of short-rib thoracic dysplasia with or without polydactyly, see SRTD1 (OMIM ).

Related symptoms:

  • Short stature
  • Scoliosis
  • Abnormal facial shape
  • Low-set ears
  • Depressed nasal bridge


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY; SRTD15

Medium match DIAPHANOSPONDYLODYSOSTOSIS


Diaphanospondylodysostosis is characterized by absent ossification of the vertebral bodies and sacrum associated with variable anomalies. It has been described in less than ten patients from different families. Manifestations include a short neck, a short wide thorax, a reduced number of ribs, a narrow pelvis, and inconstant anomalies such as myelomeningocele, cystic kidneys with nephrogenic rests, and cleft palate.

DIAPHANOSPONDYLODYSOSTOSIS Is also known as vertebral ossification, defect in, with nephrogenic rests

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hypertelorism
  • Micrognathia
  • Muscular hypotonia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about DIAPHANOSPONDYLODYSOSTOSIS

Medium match OCULOCEREBROFACIAL SYNDROME, KAUFMAN TYPE


Oculocerebrofacial syndrome, Kaufman type is characterized by psychomotor retardation, microcephaly, upslanting palpebral fissures, eye abnormalities (microcornea, strabismus, myopia, optic atrophy), high-arched palate, preauricular skin tags and micrognathia with respiratory distress. It has been described in about 10 cases. Other anomalies can be present: long thin hands and feet, ambiguous genitalia, hypertelorism, etc. An autosomal recessive mode of inheritance seems most likely.

OCULOCEREBROFACIAL SYNDROME, KAUFMAN TYPE Is also known as mendenhall syndrome|rabson-mendenhall syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about OCULOCEREBROFACIAL SYNDROME, KAUFMAN TYPE

Top 5 symptoms//phenotypes associated to Epicanthus and Dyspnea

Symptoms // Phenotype % cases
Respiratory distress Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Abnormal facial shape Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Epicanthus and Dyspnea. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Microcephaly Low-set ears Seizures Generalized hypotonia Micrognathia Ventriculomegaly Respiratory insufficiency Hypertonia Cleft palate Depressed nasal bridge Feeding difficulties Optic atrophy

Rare Symptoms - Less than 30% cases


Progressive microcephaly Upslanted palpebral fissure Syndactyly Nystagmus Peripheral neuropathy Hepatomegaly Encephalopathy Acidosis Blepharophimosis Hypoglycemia Lactic acidosis Increased serum lactate Wide intermamillary distance Dystonia Muscular hypotonia of the trunk Increased serum pyruvate Narrow face Ataxia Ptosis Tetraparesis Patent ductus arteriosus Coarctation of aorta High palate Protuberant abdomen Failure to thrive Developmental regression Hypertelorism Flexion contracture Thin upper lip vermilion Small nail Dysphagia Anemia Downslanted palpebral fissures Hernia Myalgia Bifid uvula Hearing impairment Webbed neck Muscle weakness Abnormality of the ribs Oligohydramnios Renal cyst Pulmonary hypoplasia Cleft lip Depressed nasal ridge Narrow chest Renal dysplasia Large fontanelles Hammertoe Short thorax Polymicrogyria Thoracic dysplasia Vertebral segmentation defect Thoracic hypoplasia Inguinal hernia Hepatosplenomegaly Skeletal dysplasia Polyhydramnios Tracheomalacia Enlarged kidney Polydactyly Multiple renal cysts Bell-shaped thorax Myelomeningocele Missing ribs Oral cleft Intrauterine growth retardation Short nose Short ribs Short clavicles Spinal canal stenosis Increased number of teeth Hamartoma Vaginal atresia Metaphyseal dysplasia Complete atrioventricular canal defect Atrioventricular canal defect Mesomelia Cone-shaped epiphysis Cutaneous syndactyly Horizontal ribs Horseshoe kidney Accessory oral frenulum Short neck Postaxial hand polydactyly Limb undergrowth Bilateral postaxial polydactyly Nail dysplasia Hydrometrocolpos Hypoplasia of the epiglottis Partial atrioventricular canal defect Hypodontia Postaxial polydactyly Muscular hypotonia Median cleft lip Cleft upper lip Talipes equinovarus Hypoplastic fingernail Strabismus Disproportionate short-trunk short stature Preauricular skin tag Hyperglycemia Clitoral hypertrophy Lipodystrophy Precocious puberty Hyperinsulinemia Acanthosis nigricans Insulin resistance Flat occiput Hypertrichosis Short palpebral fissure Epidermal acanthosis Microdontia Specific learning disability Sepsis Absent eyebrow Ovarian neoplasm Microcornea Choroideremia Abnormality of upper lip Postprandial hyperglycemia Muscle flaccidity Chorioretinal dystrophy Diabetic ketoacidosis Abnormal lip morphology Thin eyebrow Insulin-resistant diabetes mellitus Advanced eruption of teeth Long penis Fasting hypoglycemia Thick nail Abnormality of the optic nerve Long foot Ketoacidosis Abdominal distention High, narrow palate Cystic renal dysplasia Nephrogenic rest Intralobar nephroblastomatosis Absent in utero ossification of vertebral bodies Unossified sacrum Absent in utero rib ossification Lumbosacral meningocele Abnormal liver lobulation Unossified vertebral bodies Neoplasm Nephroblastomatosis Absent or minimally ossified vertebral bodies Abnormal vertebral segmentation and fusion Narrow pelvis bone Increased nuchal translucency Enlarged thorax Growth delay Macrocephaly Hirsutism Short philtrum Thin vermilion border Long face Dry skin Arachnodactyly Smooth philtrum Small for gestational age Wide mouth Myopia Telecanthus Coarse facial features Retrognathia Mandibular prognathia Respiratory failure Brachycephaly Abnormality of the dentition Splenomegaly Agenesis of corpus callosum Brachydactyly Choreoathetosis Hyperreflexia Intellectual disability, severe Myoclonus Micropenis Abnormality of the nervous system Poor speech Dyskinesia Generalized myoclonic seizures Chorea Brain atrophy Epileptic encephalopathy Hypsarrhythmia Intellectual disability, profound Status epilepticus Spastic tetraparesis Cognitive impairment Lissencephaly Hyperkinesis Global brain atrophy Infantile spasms Muscle fibrillation Epileptic spasms Developmental stagnation Spastic ataxia Abnormality of skin morphology Pain Skeletal muscle atrophy Fatigue Abnormality of the skeletal system Edema Delayed speech and language development Spasticity Hyporeflexia Malar flattening Gait disturbance Hyperlordosis Ophthalmoplegia Muscle cramps Chest pain Asthma Limitation of joint mobility EMG abnormality Abnormality of the voice Myotonia Ophthalmoparesis Skeletal muscle hypertrophy Generalized muscle hypertrophy Sensorineural hearing impairment Midface retrusion Rotary nystagmus Severe sensorineural hearing impairment Organic aciduria Babinski sign Long philtrum Mandibulofacial dysostosis Granulocytopenia Broad neck Submucous cleft hard palate Posteriorly rotated ears Macrocytic anemia Mixed hearing impairment Sparse eyebrow Sparse and thin eyebrow Congenital diaphragmatic hernia Microtia Depressivity Hyperhidrosis Scoliosis Broad-based gait Vomiting Cerebral atrophy Dilatation Pectus excavatum Neonatal hypotonia Severe global developmental delay Spastic paraplegia Abnormality of eye movement Unsteady gait Hemolytic anemia Metabolic acidosis Coma Spastic tetraplegia Progressive neurologic deterioration Trigonocephaly Dysarthria Spastic diplegia Partial agenesis of the corpus callosum Difficulty running Lipoma Poor coordination Corpus callosum atrophy Severe lactic acidosis Poor fine motor coordination Hyperalaninemia Decreased activity of the pyruvate dehydrogenase complex Periventricular cysts Subependymal cysts Projectile vomiting Poor gross motor coordination Hypoplasia of the corpus callosum Tethered cord Narrow mouth Chronic pain Deeply set eye Rigidity Paralysis Finger syndactyly Facial asymmetry Paresthesia Postural instability Sensory impairment Hypotelorism Hoarse voice Narrow palpebral fissure Scapular winging Axonal degeneration Facial paralysis Dysesthesia Double outlet right ventricle Jaundice Cystic hygroma Hypoplastic left heart Absence seizures Cerebral visual impairment Pulmonic stenosis Abnormality of the pinna Umbilical hernia Weak voice Blindness Brachial plexus neuropathy Radial head subluxation Cutis gyrata of scalp Peripheral axonal degeneration Neuritis Onychauxis



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